Incidental Mutation 'R1442:Zmym2'
ID |
161562 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zmym2
|
Ensembl Gene |
ENSMUSG00000021945 |
Gene Name |
zinc finger, MYM-type 2 |
Synonyms |
SCLL, RAMP, Zfp198, FIM, MYM |
MMRRC Submission |
039497-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.569)
|
Stock # |
R1442 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
57123986-57199815 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57180784 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 899
(Y899H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022511
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022511]
|
AlphaFold |
Q9CU65 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022511
AA Change: Y899H
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000022511 Gene: ENSMUSG00000021945 AA Change: Y899H
Domain | Start | End | E-Value | Type |
TRASH
|
330 |
366 |
1.55e-5 |
SMART |
TRASH
|
372 |
412 |
7.69e-1 |
SMART |
TRASH
|
424 |
459 |
7.5e1 |
SMART |
TRASH
|
466 |
505 |
6.53e-4 |
SMART |
Pfam:zf-FCS
|
527 |
569 |
1.8e-9 |
PFAM |
TRASH
|
583 |
619 |
4.79e1 |
SMART |
TRASH
|
638 |
674 |
8.49e-3 |
SMART |
TRASH
|
680 |
715 |
7.28e-2 |
SMART |
TRASH
|
726 |
761 |
1.95e-2 |
SMART |
TRASH
|
767 |
802 |
3.89e1 |
SMART |
low complexity region
|
881 |
895 |
N/A |
INTRINSIC |
low complexity region
|
904 |
917 |
N/A |
INTRINSIC |
low complexity region
|
1087 |
1111 |
N/A |
INTRINSIC |
Pfam:DUF3504
|
1191 |
1359 |
7.3e-66 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224922
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225282
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225393
|
Meta Mutation Damage Score |
0.2126 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.4%
|
Validation Efficiency |
100% (71/71) |
MGI Phenotype |
FUNCTION: This gene encodes a protein that contains nine MYM-type zinc finger motifs. Expression of this gene may mediate the inhibition of hematopoietic cell development during ontogeny, and the encoded protein may also play a role in transforming growth factor-beta signaling as a Smad binding protein. [provided by RefSeq, Feb 2011] PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit prenatal lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031439G07Rik |
A |
T |
15: 84,839,833 (GRCm39) |
|
probably benign |
Het |
Adamts7 |
T |
A |
9: 90,070,823 (GRCm39) |
I648N |
probably damaging |
Het |
Akap13 |
T |
A |
7: 75,385,526 (GRCm39) |
F2252I |
probably damaging |
Het |
Akr1c6 |
A |
T |
13: 4,507,159 (GRCm39) |
H314L |
probably damaging |
Het |
Anxa3 |
T |
A |
5: 96,976,549 (GRCm39) |
|
probably null |
Het |
Apob |
T |
G |
12: 8,036,165 (GRCm39) |
F298V |
probably benign |
Het |
Atp8a2 |
A |
C |
14: 60,097,772 (GRCm39) |
|
probably benign |
Het |
Atp8b5 |
A |
T |
4: 43,334,313 (GRCm39) |
T360S |
probably damaging |
Het |
BC051665 |
A |
T |
13: 60,932,555 (GRCm39) |
N43K |
probably benign |
Het |
Bicral |
T |
A |
17: 47,112,650 (GRCm39) |
H850L |
probably benign |
Het |
C1qtnf1 |
A |
G |
11: 118,339,011 (GRCm39) |
D227G |
probably damaging |
Het |
C8a |
T |
A |
4: 104,685,275 (GRCm39) |
T323S |
possibly damaging |
Het |
Cep89 |
T |
C |
7: 35,117,636 (GRCm39) |
|
probably benign |
Het |
Cercam |
G |
T |
2: 29,770,652 (GRCm39) |
V408L |
probably benign |
Het |
CN725425 |
G |
A |
15: 91,123,158 (GRCm39) |
V76M |
possibly damaging |
Het |
Cops7b |
T |
A |
1: 86,532,835 (GRCm39) |
M231K |
probably benign |
Het |
Cpa2 |
T |
A |
6: 30,544,865 (GRCm39) |
|
probably null |
Het |
Dab2ip |
A |
T |
2: 35,600,268 (GRCm39) |
I287F |
probably damaging |
Het |
Defb10 |
A |
T |
8: 22,348,944 (GRCm39) |
M1L |
probably benign |
Het |
Dscam |
C |
A |
16: 96,409,274 (GRCm39) |
R1883L |
possibly damaging |
Het |
Dsg4 |
T |
A |
18: 20,595,717 (GRCm39) |
I640N |
possibly damaging |
Het |
Duox2 |
G |
C |
2: 122,112,232 (GRCm39) |
P1318R |
probably benign |
Het |
Dzip3 |
T |
C |
16: 48,765,985 (GRCm39) |
D466G |
probably benign |
Het |
E230025N22Rik |
T |
A |
18: 36,824,462 (GRCm39) |
|
probably null |
Het |
E2f3 |
A |
G |
13: 30,102,652 (GRCm39) |
L80P |
probably damaging |
Het |
Eif2b2 |
T |
C |
12: 85,266,360 (GRCm39) |
S9P |
probably benign |
Het |
Etaa1 |
A |
T |
11: 17,897,201 (GRCm39) |
D305E |
probably benign |
Het |
Fads6 |
C |
A |
11: 115,188,235 (GRCm39) |
R23L |
probably benign |
Het |
Flrt2 |
T |
C |
12: 95,746,979 (GRCm39) |
V439A |
probably damaging |
Het |
Galm |
A |
C |
17: 80,452,614 (GRCm39) |
Q184P |
probably damaging |
Het |
Gtse1 |
C |
T |
15: 85,744,303 (GRCm39) |
|
probably benign |
Het |
Irf7 |
T |
C |
7: 140,843,935 (GRCm39) |
T246A |
probably damaging |
Het |
Kif28 |
A |
G |
1: 179,532,697 (GRCm39) |
V639A |
possibly damaging |
Het |
Klhdc8a |
G |
A |
1: 132,230,385 (GRCm39) |
A167T |
possibly damaging |
Het |
Lrfn3 |
T |
C |
7: 30,059,469 (GRCm39) |
H252R |
probably benign |
Het |
Lzts1 |
G |
T |
8: 69,591,638 (GRCm39) |
A170E |
probably damaging |
Het |
Mphosph9 |
T |
A |
5: 124,403,461 (GRCm39) |
I856F |
possibly damaging |
Het |
Mroh2a |
C |
T |
1: 88,160,075 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
Myh3 |
A |
G |
11: 66,978,103 (GRCm39) |
N392D |
possibly damaging |
Het |
Naalad2 |
T |
C |
9: 18,262,328 (GRCm39) |
|
probably benign |
Het |
Npc1 |
T |
A |
18: 12,328,106 (GRCm39) |
M1068L |
probably benign |
Het |
Nup58 |
T |
A |
14: 60,469,992 (GRCm39) |
|
probably benign |
Het |
Or10c1 |
T |
C |
17: 37,522,595 (GRCm39) |
T50A |
probably benign |
Het |
Or4k40 |
A |
T |
2: 111,250,438 (GRCm39) |
I286N |
probably damaging |
Het |
Or8b1 |
A |
T |
9: 38,399,939 (GRCm39) |
I205F |
probably benign |
Het |
Or8s16 |
T |
C |
15: 98,211,068 (GRCm39) |
Y121C |
probably damaging |
Het |
Parp2 |
T |
G |
14: 51,056,732 (GRCm39) |
|
probably null |
Het |
Ppp4r4 |
T |
C |
12: 103,564,504 (GRCm39) |
V9A |
probably damaging |
Het |
Ptprc |
T |
A |
1: 138,000,050 (GRCm39) |
D856V |
probably damaging |
Het |
Ptpru |
T |
A |
4: 131,535,580 (GRCm39) |
T466S |
probably benign |
Het |
Rhob |
A |
G |
12: 8,549,325 (GRCm39) |
V103A |
possibly damaging |
Het |
Sec23ip |
A |
C |
7: 128,378,510 (GRCm39) |
S775R |
probably benign |
Het |
Slit2 |
T |
G |
5: 48,395,725 (GRCm39) |
D709E |
probably damaging |
Het |
Smok2b |
C |
G |
17: 13,454,390 (GRCm39) |
I183M |
probably damaging |
Het |
Smtnl1 |
T |
A |
2: 84,648,780 (GRCm39) |
D158V |
probably damaging |
Het |
Syne2 |
T |
C |
12: 75,993,489 (GRCm39) |
I2087T |
probably damaging |
Het |
Tada1 |
G |
A |
1: 166,214,319 (GRCm39) |
R106H |
possibly damaging |
Het |
Tecta |
T |
A |
9: 42,243,778 (GRCm39) |
I2025F |
probably damaging |
Het |
Themis |
T |
C |
10: 28,658,131 (GRCm39) |
V386A |
probably damaging |
Het |
Ubr5 |
G |
A |
15: 38,015,168 (GRCm39) |
|
probably benign |
Het |
Vcl |
T |
A |
14: 21,033,446 (GRCm39) |
I134N |
probably damaging |
Het |
Vegfa |
G |
A |
17: 46,336,418 (GRCm39) |
T56I |
possibly damaging |
Het |
Vmn2r108 |
T |
A |
17: 20,692,623 (GRCm39) |
K78* |
probably null |
Het |
Vmn2r82 |
A |
T |
10: 79,215,201 (GRCm39) |
T395S |
probably benign |
Het |
Wbp2nl |
T |
C |
15: 82,198,407 (GRCm39) |
S315P |
probably benign |
Het |
Zfp566 |
T |
C |
7: 29,777,344 (GRCm39) |
Y279C |
probably damaging |
Het |
|
Other mutations in Zmym2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00516:Zmym2
|
APN |
14 |
57,185,394 (GRCm39) |
splice site |
probably benign |
|
IGL00587:Zmym2
|
APN |
14 |
57,140,817 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL00736:Zmym2
|
APN |
14 |
57,140,668 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00753:Zmym2
|
APN |
14 |
57,194,517 (GRCm39) |
nonsense |
probably null |
|
IGL01608:Zmym2
|
APN |
14 |
57,185,472 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL01744:Zmym2
|
APN |
14 |
57,184,029 (GRCm39) |
missense |
probably benign |
0.24 |
IGL02150:Zmym2
|
APN |
14 |
57,148,526 (GRCm39) |
splice site |
probably benign |
|
IGL02186:Zmym2
|
APN |
14 |
57,180,808 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02654:Zmym2
|
APN |
14 |
57,148,772 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02960:Zmym2
|
APN |
14 |
57,175,870 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03104:Zmym2
|
APN |
14 |
57,187,784 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL03162:Zmym2
|
APN |
14 |
57,151,500 (GRCm39) |
missense |
probably benign |
0.24 |
IGL03356:Zmym2
|
APN |
14 |
57,194,517 (GRCm39) |
nonsense |
probably null |
|
IGL03412:Zmym2
|
APN |
14 |
57,197,176 (GRCm39) |
nonsense |
probably null |
|
R5038_Zmym2_756
|
UTSW |
14 |
57,193,637 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0131:Zmym2
|
UTSW |
14 |
57,180,715 (GRCm39) |
missense |
probably benign |
|
R0131:Zmym2
|
UTSW |
14 |
57,180,715 (GRCm39) |
missense |
probably benign |
|
R0132:Zmym2
|
UTSW |
14 |
57,180,715 (GRCm39) |
missense |
probably benign |
|
R0270:Zmym2
|
UTSW |
14 |
57,187,141 (GRCm39) |
splice site |
probably null |
|
R0834:Zmym2
|
UTSW |
14 |
57,194,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R1071:Zmym2
|
UTSW |
14 |
57,197,278 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1386:Zmym2
|
UTSW |
14 |
57,150,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R1472:Zmym2
|
UTSW |
14 |
57,148,640 (GRCm39) |
missense |
probably benign |
0.20 |
R1595:Zmym2
|
UTSW |
14 |
57,158,187 (GRCm39) |
missense |
probably benign |
0.25 |
R1598:Zmym2
|
UTSW |
14 |
57,151,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R1598:Zmym2
|
UTSW |
14 |
57,140,226 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1916:Zmym2
|
UTSW |
14 |
57,197,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R2261:Zmym2
|
UTSW |
14 |
57,165,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R2393:Zmym2
|
UTSW |
14 |
57,158,180 (GRCm39) |
missense |
probably benign |
0.17 |
R2866:Zmym2
|
UTSW |
14 |
57,165,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R3727:Zmym2
|
UTSW |
14 |
57,156,806 (GRCm39) |
splice site |
probably benign |
|
R3847:Zmym2
|
UTSW |
14 |
57,158,956 (GRCm39) |
splice site |
probably benign |
|
R4043:Zmym2
|
UTSW |
14 |
57,195,765 (GRCm39) |
splice site |
probably benign |
|
R4074:Zmym2
|
UTSW |
14 |
57,140,461 (GRCm39) |
missense |
probably damaging |
0.99 |
R4343:Zmym2
|
UTSW |
14 |
57,159,019 (GRCm39) |
missense |
probably damaging |
0.99 |
R4420:Zmym2
|
UTSW |
14 |
57,194,335 (GRCm39) |
missense |
probably damaging |
0.98 |
R4645:Zmym2
|
UTSW |
14 |
57,165,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R5015:Zmym2
|
UTSW |
14 |
57,159,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R5038:Zmym2
|
UTSW |
14 |
57,193,637 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5223:Zmym2
|
UTSW |
14 |
57,183,971 (GRCm39) |
missense |
probably benign |
|
R5364:Zmym2
|
UTSW |
14 |
57,158,102 (GRCm39) |
missense |
possibly damaging |
0.58 |
R5488:Zmym2
|
UTSW |
14 |
57,193,712 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5489:Zmym2
|
UTSW |
14 |
57,193,712 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5818:Zmym2
|
UTSW |
14 |
57,183,986 (GRCm39) |
missense |
probably benign |
|
R6160:Zmym2
|
UTSW |
14 |
57,187,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R6437:Zmym2
|
UTSW |
14 |
57,140,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R7107:Zmym2
|
UTSW |
14 |
57,140,169 (GRCm39) |
missense |
probably benign |
0.01 |
R7153:Zmym2
|
UTSW |
14 |
57,187,659 (GRCm39) |
missense |
probably benign |
0.16 |
R7337:Zmym2
|
UTSW |
14 |
57,181,557 (GRCm39) |
missense |
probably benign |
0.04 |
R7535:Zmym2
|
UTSW |
14 |
57,194,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R7730:Zmym2
|
UTSW |
14 |
57,193,638 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7779:Zmym2
|
UTSW |
14 |
57,165,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R7849:Zmym2
|
UTSW |
14 |
57,184,020 (GRCm39) |
missense |
probably benign |
0.03 |
R8219:Zmym2
|
UTSW |
14 |
57,163,316 (GRCm39) |
missense |
probably benign |
0.07 |
R8493:Zmym2
|
UTSW |
14 |
57,151,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R8885:Zmym2
|
UTSW |
14 |
57,185,329 (GRCm39) |
intron |
probably benign |
|
R9162:Zmym2
|
UTSW |
14 |
57,163,361 (GRCm39) |
missense |
probably benign |
0.02 |
R9165:Zmym2
|
UTSW |
14 |
57,185,464 (GRCm39) |
missense |
probably damaging |
0.98 |
R9250:Zmym2
|
UTSW |
14 |
57,148,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R9453:Zmym2
|
UTSW |
14 |
57,180,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R9677:Zmym2
|
UTSW |
14 |
57,187,115 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Zmym2
|
UTSW |
14 |
57,150,456 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1177:Zmym2
|
UTSW |
14 |
57,151,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTGGACTATTGTGCAGCTCAATGTTT -3'
(R):5'- GCATTAAATCCACTTTGTCACAGCAACT -3'
Sequencing Primer
(F):5'- agacagaagcagaggcatc -3'
(R):5'- GCAACTATAATTAGTACAGCTTTGCC -3'
|
Posted On |
2014-03-14 |